Self administered screening for hereditary cancers in conjunction with mammography and ultrasound
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ORIGINAL ARTICLE
Self administered screening for hereditary cancers in conjunction with mammography and ultrasound Charles H. McDonnell • David J. Seidenwurm Diana E. McDonnell • Kristie A. Bobolis
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Published online: 13 April 2013 Ó Springer Science+Business Media Dordrecht 2013
Abstract We evaluated the feasibility of an automated tablet computer application providing a family and personal history based cancer risk assessment for hereditary breast, ovarian, endometrial and colorectal cancers. 1,002 women presenting for screening mammography and 1,000 presenting for ultrasound were offered screening. The application calculated the risk of BRCA mutations using BRCAPRO, Myriad and Tyrer–Cuzick risk assessment models. Lifetime risk of breast and ovarian cancer was assessed with the BRCAPRO, Claus and Tyrer–Cuzick models. Colorectal and endometrial cancer risk was calculated via the MMRpro model. Patients were identified as high-risk based on thresholds 10 % or greater risk for carrying genetic mutations or 20 % or greater lifetime risk of breast or ovarian cancer. The percent of women found to be high-risk by a single risk assessment tool ranged from 0.5 to 5.3 %. Combining assessment tools found 9.3 % of women to be high-risk. The risk assessments performed similarly for the mammography and ultrasound cohorts with yields (combining assessment tools) of 9.2 and 9.4 % respectively. The average ages of all the high-risk women were 45.8 and 39.6 years for the mammography and ultrasound cohorts respectively. Difficulties encountered
C. H. McDonnell (&) D. J. Seidenwurm Radiological Associates of Sacramento Medical Group, Inc., 1500 Expo Parkway, Sacramento, CA 95815, USA e-mail: [email protected] D. E. McDonnell Scripps College, 1030 Columbia Ave. #736, Claremont, CA 91711-3905, USA K. A. Bobolis Capitol Hematology and Oncology, 2 Medical Plaza Dr # 200, Roseville, CA 95661, USA
included a need for software upgrade, wireless network unreliability and hardware theft. Automated family history screening can identify women probably at high-risk for hereditary cancers efficiently. The number of women identified is increased by employing multiple risk assessment models simultaneously. Surveying women in conjunction with ultrasound identified women at increased risk as effectively and at a younger age than with screening mammography. Keywords Cancer risk assessment Familial cancers including breast cancer, ovarian cancer, colon cancer and endometrial cancer Software Screening
Introduction While hereditary cancers (those that occur in the setting of an inherited genetic mutation) account for only approximately 10 % of all cancers, people carrying such mutations are at especially high risk for developing cancer and at an earlier age. For example, women carrying either of the BRCA mutations or individuals with Hereditary Nonpolyposis Colon Cancer Syndrome (HNPCC) have over 80 % risk of developing cancer by the age of seventy with up to half of the cancers by age fifty for the BRCA carriers [1–5]. Because of the hi
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